Finding the right doctor and learning to live with a progressive genetic disorder — as a family

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from advocate Catherine DeCrescenzo.

In 2006, our-primary care physician sent my husband, Joe, for an MRI to rule out a brain tumor and/or a stroke due to his clumsiness, lack of balance and slurred speech. The MRI revealed "empty spaces" in his cerebellum. We were referred to a local neurologist who ordered blood tests.

We were called into the doctor’s office and told the results, which revealed spinocerebellar ataxia type 2, or SCA2. It’s a relatively rare genetic condition that leads to progressive problems with movement. When we asked what we needed to do, the doctor told us to "go home and be happy.” He went on to say he didn’t know much about ataxia. I stood up, thanked him for seeing us, requested Joe's records and told him that we wouldn’t be back.

Now we had to find a physician as well as learn how to cope with a difficult disease. We were hopeful that the second neurologist, at a leading research university, would be more knowledgeable. Three visits later, after giving her the benefit of the doubt and with her doing nothing other than recommending speech therapy and vitamin supplements, we realized, yet again, that it wasn't the right fit.

Our search for a neurologist with whom we were comfortable was becoming exhausting, but we didn’t give up. The next step was the Internet, where we were determined to find an ataxia specialist. We found one we thought could work; we were hopeful, but our expectations were low due to our previous experiences.

Upon entering the exam room, the neurologist, without knowledge of the type of ataxia Joe was diagnosed with, looked Joe straight in the eye and told him he had SCA2. (There is an eye movement disorder that is a symptom of SCA2.) Time stood still for a moment, as we realized, finally, our search was over. After the neurologist conducted an extensive physical examination, he spent an extraordinary amount of time with us, answering all our questions, asking us about our family, discussing what our hopes and dreams were and how to achieve them while Joe was still able. He kept the conversation light-hearted, yet he did not sugarcoat the disorder. He was upfront as to the stages of the disorder and the long-term prognosis. We appreciated his honesty and he made us feel very comfortable.

From our experience, you'll know when you "click" with your doctor and can trust him or her with your care. We have never been afraid to ask him questions or address concerns. He is available just to talk, if that’s what we need to do. We've been with him ever since, and have no intention to leave.

Around the time we were struggling to find a physician, one of our adult daughters got married. Our neurologist suggested that she and her husband make an appointment for genetic counseling and that she be tested for ataxia, as Joe's type is hereditary and there’s a 50 percent chance of passing it on to our children. Ultimately, our daughter followed up with his recommendation and, unfortunately, tested positive for SCA2. When she and her husband were ready to start a family, the genetic counselor referred them to a fertility facility and after months of testing, probing, injections, and emotional and physical impact, using IVF, and pre-implantation genetic testing, two disease-free embryos were implanted, thus, our twin granddaughters were born, and are ataxia-free!

The most difficult aspect of our journey is knowing our child is affected with a progressive, degenerative disorder, and unlike when she was a little girl with a skinned knee, there’s nothing we can do to fix it — it’s heart wrenching. We find strength through our faith and our daughter who is a model of strength and courage. She fights every day to stay active and positive, and our hope is that a cure is found in our daughter's lifetime.

Catherine DeCrescenzo, of Newark, Delaware, is co-chairperson of the Delaware Ataxia Support Group, with the National Ataxia Foundation.

Top photo of the author, her husband and their daughters Amy (left) and Karen, and bottom photo of the author's twin granddaughters, both courtesy of Catherine DeCrescenzo